A Novel Case of 15q24 Microdeletion Syndrome Detected by MLPA in a Chinese Family.
Clin Lab
; 63(9): 1501-1506, 2017 Sep 01.
Article
em En
| MEDLINE
| ID: mdl-28879703
ABSTRACT
BACKGROUND:
Chromosome 15q24 microdeletion syndrome is a rare disease. To date, only 40 cases have been reported. Here, we also confirmed a 15q24 microdeletion syndrome in a chorionic villus of miscarriage.METHODS:
The microdeletion was screened by multiplex ligation-dependent probe amplification (MLPA) and then identified by chromosomal microarray analysis (CMA).RESULTS:
A 15q24 microdeletion syndrome was screened by MLPA in the chorionic villus of miscarriage in a Chinese family and was confirmed to be a de novo 3.143 Mb 15q24.1q24.2 deletion (chr1572930195-76073450) by chromosomal microarray analysis (CMA).CONCLUSIONS:
We first reported the 15q24 microdeletion syndrome screened by MLPA in Chinese population, and we also considered that the technique of MLPA with a suitable kit and probe could screen such a rare microdeletion quickly, economically, and efficiently.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 15
/
Transtornos Cromossômicos
/
Reação em Cadeia da Polimerase Multiplex
/
Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article